Phenotypes Associated with This Genotype

Genotype
MGI:3703705

• Allelic Composition: Del(16Dgcr2-Hira)1Rak/+
• Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:67796 )

• a significant proportion of mutants die at or shortly after birth

cardiovascular system

abnormal aortic arch morphology ( J:67796 )

abnormal aortic arch and aortic arch branch attachment ( J:67796 )

• 47% exhibit abnormal patterning of the great vessels

aberrant origin of the right subclavian artery ( J:67796 )

• the right subclavian artery arises ectopically in many cases

• in 6% of embryos, the right subclavian artery arises from the ascending aorta

retroesophageal right subclavian artery ( J:67796 )

• in 16% of embryos, the right subclavian artery arises from the distal portion of the aortic arch and travels posteriorly to the right foreleg

interrupted aortic arch, type b ( J:67796 )

• 10% exhibit complete interruption of the aortic arch type B, in which the interruptions occur between the left carotid artery and the left subclavian artery

right aortic arch ( J:67796 )

• 5% of embryos exhibit a right-sided aortic arch with a left-sided ductus arteriosus; the aortic arch is posterior to the esophagus and trachea

abnormal brachiocephalic trunk morphology ( J:67796 )

• in 9% of mutants, the innominate artery is unusually long (more than twice the normal) prior to the origin of the subclavian artery

abnormal common carotid artery morphology ( J:67796 )

• the left common carotid artery arises ectopically from the proximal ascending aorta in the 5% of embryos with right-sided aortic arch

patent ductus arteriosus ( J:67796 )

• patent ductus arteriosus is seen in cases of complete interruption of the aortic arch

ventricular septal defect ( J:67796 )

• a ventricular septal defect is seen in some mutants

endocrine/exocrine glands

absent parathyroid glands ( J:67796 )

• 5 of 7 mutants have no detectable parathyroid glands

• however, the thyroid gland is normal in size and shape

immune system

immune system phenotype ( J:67796 )

N • unlike patients with VCFS/DGS that show absence or hypoplasia of the thymus, mutants at E18.5 have an intact and normal sized thymus with normal T cell populations

cellular

patent ductus arteriosus ( J:67796 )

• patent ductus arteriosus is seen in cases of complete interruption of the aortic arch

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:67796
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:67796